Mutations in splicing factor genes are a major cause of autosomal dominant retinitis pigmentosa in belgian families
Purpose: Autosomal dominant retinitis pigmentosa (adRP) is characterized by an extensive genetic heterogeneity, implicating 27 genes, which account for 50 to 70% of cases. Here 86 Belgian probands with possible adRP underwent genetic testing to unravel the molecular basis and to assess the contribution of the genes underlying their condition. Methods: Mutation detection methods evolved over the past ten years, including mutation specific methods (APEX chip analysis), linkage analysis, gene panel analysis (Sanger sequencing, targeted next-generation sequencing or whole exome sequencing), high-r... Mehr ...
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Dokumenttyp: | Artikel |
Erscheinungsdatum: | 2017 |
Schlagwörter: | Psychologie appliquée / Sciences bio-médicales et agricoles / Biologie |
Sprache: | Englisch |
Permalink: | https://search.fid-benelux.de/Record/base-26527920 |
Datenquelle: | BASE; Originalkatalog |
Powered By: | BASE |
Link(s) : | http://hdl.handle.net/2013/ULB-DIPOT:oai:dipot.ulb.ac.be:2013/247184 |